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Year Number of Results
1964 2
2009 2
2010 4
2011 5
2014 1
2015 2
2016 1
2018 1
2019 3
2020 11
2021 8
2022 6
2023 11
2024 5
2025 0

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52 results

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Page 1
IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease.
Cananzi M, Wohler E, Marzollo A, Colavito D, You J, Jing H, Bresolin S, Gaio P, Martin R, Mescoli C, Bade S, Posey JE, Dalle Carbonare M, Tung W, Jhangiani SN, Bosa L, Zhang Y, Filho JS, Gabelli M, Kellermayer R, Kader HA, Oliva-Hemker M, Perilongo G, Lupski JR, Biffi A, Valle D, Leon A, de Macena Sobreira NL, Su HC, Guerrerio AL. Cananzi M, et al. Among authors: wohler e. Hum Genet. 2021 Sep;140(9):1299-1312. doi: 10.1007/s00439-021-02300-4. Epub 2021 Jun 29. Hum Genet. 2021. PMID: 34185153 Free PMC article. Clinical Trial.
Centers for Mendelian Genomics: A decade of facilitating gene discovery.
Baxter SM, Posey JE, Lake NJ, Sobreira N, Chong JX, Buyske S, Blue EE, Chadwick LH, Coban-Akdemir ZH, Doheny KF, Davis CP, Lek M, Wellington C, Jhangiani SN, Gerstein M, Gibbs RA, Lifton RP, MacArthur DG, Matise TC, Lupski JR, Valle D, Bamshad MJ, Hamosh A, Mane S, Nickerson DA; Centers for Mendelian Genomics Consortium; Rehm HL, O'Donnell-Luria A. Baxter SM, et al. Genet Med. 2022 Apr;24(4):784-797. doi: 10.1016/j.gim.2021.12.005. Epub 2022 Feb 9. Genet Med. 2022. PMID: 35148959 Free PMC article. Review.
COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis.
Rebello D, Wohler E, Erfani V, Li G, Aguilera AN, Santiago-Cornier A, Zhao S, Hwang SW, Steiner RD, Zhang TJ, Gurnett CA, Raggio C, Wu N, Sobreira N, Giampietro PF, Ciruna B. Rebello D, et al. Among authors: wohler e. Hum Mol Genet. 2023 Sep 16;32(19):2913-2928. doi: 10.1093/hmg/ddad117. Hum Mol Genet. 2023. PMID: 37462524 Free PMC article.
Anxiety and dysautonomia symptoms in patients with a NaV1.7 mutation and the potential benefits of low-dose short-acting guanfacine.
de Cássia Collaço R, Lammens M, Blevins C, Rodgers K, Gurau A, Yamauchi S, Kim C, Forrester J, Liu E, Ha J, Mei Y, Boehm C, Wohler E, Sobreira N, Rowe PC, Valle D, Brock MV, Bosmans F. de Cássia Collaço R, et al. Among authors: wohler e. Clin Auton Res. 2024 Feb;34(1):191-201. doi: 10.1007/s10286-023-01004-1. Epub 2023 Dec 8. Clin Auton Res. 2024. PMID: 38064009
Familial Aggregation in Idiopathic Subglottic Stenosis.
Drake VE, Gelbard A, Sobriera N, Wohler E, Berry LL, Hussain LL, Hillel A. Drake VE, et al. Among authors: wohler e. Otolaryngol Head Neck Surg. 2020 Nov;163(5):1011-1017. doi: 10.1177/0194599820935402. Epub 2020 Jun 30. Otolaryngol Head Neck Surg. 2020. PMID: 32600122 Free PMC article.
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.
Pant DC, Dorboz I, Schluter A, Fourcade S, Launay N, Joya J, Aguilera-Albesa S, Yoldi ME, Casasnovas C, Willis MJ, Ruiz M, Ville D, Lesca G, Siquier-Pernet K, Desguerre I, Yan H, Wang J, Burmeister M, Brady L, Tarnopolsky M, Cornet C, Rubbini D, Terriente J, James KN, Musaev D, Zaki MS, Patterson MC, Lanpher BC, Klee EW, Pinto E Vairo F, Wohler E, Sobreira NLM, Cohen JS, Maroofian R, Galehdari H, Mazaheri N, Shariati G, Colleaux L, Rodriguez D, Gleeson JG, Pujades C, Fatemi A, Boespflug-Tanguy O, Pujol A. Pant DC, et al. Among authors: wohler e. J Clin Invest. 2019 Mar 1;129(3):1240-1256. doi: 10.1172/JCI123959. Epub 2019 Feb 11. J Clin Invest. 2019. PMID: 30620337 Free PMC article.
Rare exonic CELSR3 variants identified in Bladder Exstrophy Epispadias Complex.
Jelin AC, Sopko N, Sobreira N, Boyadjiev SA, Wohler E, Morrill C, Witmer PD, Michaud J, Valle D, Gearhart J, Dicarlo H. Jelin AC, et al. Among authors: wohler e. Front Genet. 2024 Jun 5;15:1266210. doi: 10.3389/fgene.2024.1266210. eCollection 2024. Front Genet. 2024. PMID: 38903756 Free PMC article.
Human Leukocyte Antigen Genotyping of Idiopathic Subglottic Stenosis.
Rohlfing ML, Hillel AT, Wohler E, Sobreira N, Phillips EJ, Mallal SA, Gelbard A. Rohlfing ML, et al. Among authors: wohler e. Laryngoscope. 2023 Oct;133(10):2533-2539. doi: 10.1002/lary.30580. Epub 2023 Feb 2. Laryngoscope. 2023. PMID: 36728247 Free PMC article.
52 results